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SLFN12L schlafen family member 12 like [ Homo sapiens (human) ]

Gene ID: 100506736, updated on 8-Mar-2024

Summary

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Official Symbol
SLFN12Lprovided by HGNC
Official Full Name
schlafen family member 12 likeprovided by HGNC
Primary source
HGNC:HGNC:33920
See related
Ensembl:ENSG00000205045 MIM:614956; AllianceGenome:HGNC:33920
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in spleen (RPKM 1.6), lymph node (RPKM 1.2) and 20 other tissues See more
Orthologs
all
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Genomic context

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Location:
17q12
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (35464254..35537678, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (36412245..36485638, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (33791273..33864697, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene schlafen family member 13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12070 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8437 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr17:33776099-33776600 and GRCh37_chr17:33776601-33777100 Neighboring gene adenylosuccinate synthase 2 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8438 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12072 Neighboring gene Sharpr-MPRA regulatory region 9708 Neighboring gene E2F transcription factor 3 pseudogene 1 Neighboring gene TATA-box binding protein associated factor 5 like pseudogene 1 Neighboring gene mitochondrial import receptor subunit TOM20 homolog Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12073 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12074 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12075 Neighboring gene uncharacterized LOC107985033 Neighboring gene schlafen family member 14 Neighboring gene ribosomal protein L39 pseudogene 32

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Schlafen 12 mediates the effects of butyrate and repetitive mechanical deformation on intestinal epithelial differentiation in human Caco-2 intestinal epithelial cells. Chaturvedi LS, et al. Hum Cell, 2019 Jul. PMID 30875077, Free PMC Article
  2. Quantitative trait loci for CD4:CD8 lymphocyte ratio are associated with risk of type 1 diabetes and HIV-1 immune control. Ferreira MA, et al. Am J Hum Genet, 2010 Jan. PMID 20045101, Free PMC Article
  3. Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor region. Kehrer-Sawatzki H, et al. J Med Genet, 2003 Oct. PMID 14569139, Free PMC Article
  4. Schlafen 4-expressing myeloid-derived suppressor cells are induced during murine gastric metaplasia. Ding L, et al. J Clin Invest, 2016 Aug 1. PMID 27427984, Free PMC Article
  5. Genome-wide association scan of trait depression. Terracciano A, et al. Biol Psychiatry, 2010 Nov 1. PMID 20800221, Free PMC Article

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Schlafen 12 (SLFN12) is a cytosolic protein that stimulates sucrase-isomaltase (SI) expression.
    Title: Schlafen 12 mediates the effects of butyrate and repetitive mechanical deformation on intestinal epithelial differentiation in human Caco-2 intestinal epithelial cells.
  2. in the stomachs of H. pylori-infected patients, the human SLFN4 ortholog SLFN12L colocalized to cells that expressed myeloid-derived suppressor cell surface markers CD15+CD33+HLA-DRlo
    Title: Schlafen 4-expressing myeloid-derived suppressor cells are induced during murine gastric metaplasia.
  3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  4. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Quantitative trait loci for CD4:CD8 lymphocyte ratio are associated with risk of type 1 diabetes and HIV-1 immune control.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association scan of trait depression.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ23922

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
schlafen family member 12-like

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001195790.3 → NP_001182719.2  schlafen family member 12-like isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC015911
    Consensus CDS
    CCDS56026.2
    UniProtKB/Swiss-Prot
    F5H6G3, Q6IEE8
    UniProtKB/TrEMBL
    A0A499FJ85
    Related
    ENSP00000437635.2, ENST00000260908.13
    Conserved Domains (1) summary
    PHA02782
    Location:17 → 341
    PHA02782; hypothetical protein; Provisional

  2. NM_001363830.2 → NP_001350759.2  schlafen family member 12-like isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC015911
    Consensus CDS
    CCDS86591.2
    UniProtKB/Swiss-Prot
    F5H6G3, Q6IEE8
    UniProtKB/TrEMBL
    A0A8I5QCZ1
    Related
    ENSP00000487397.4, ENST00000628453.4
    Conserved Domains (1) summary
    PHA02782
    Location:59 → 383
    PHA02782; hypothetical protein; Provisional

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    35464254..35537678 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    36412245..36485638 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001145027.1: Suppressed sequence

    Description
    NM_001145027.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6IEE8.4 GenPept UniProtKB/Swiss-Prot:Q6IEE8

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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